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Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of...
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Decoding Dystrophin Gene Mutations: Unraveling the Mysteries of Muscular Dystrophy
Muscular dystrophies are a group of human monogenic disorders causing muscle weaknesses and affecting mobility. Mutations in different genes cause...
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Muscular Dystrophy: Mutations in the Dystrophin Gene
Muscular dystrophy (MD) is a heterogeneous group of genetic disorders characterized by progressive muscle degeneration and weakness, leading to...
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Muscular Dystrophy: Underlying Cellular and Molecular Mechanisms and Various Nanotherapeutic Approaches for Muscular Dystrophy
Muscular dystrophy (MD) corresponds to a cluster of approximately 30–40 genetically controlled diseases, which exhibit inheritance patterns that are...
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Current Strategies of Muscular Dystrophy Therapeutics: An Overview
Muscular dystrophies are a group of geneticGenetics disorders characterized by varying degrees of progressive muscle weakness and degeneration. They...
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Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and...
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Systemic Delivery of a Monoclonal Antibody to Immunologically Block Myostatin in the A17 Mouse Model of OPMD
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset rare muscle disease affecting approximately 1 in 80,000 individuals worldwide. However, it...
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Gene Therapy for Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset, autosomal-dominant disease affecting 1:100,000 individuals in Europe. OPMD is due to...
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Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases
Non-coding CGG repeat expansions within the 5′ untranslated region are implicated in a range of neurological disorders, including fragile...
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The polyG diseases: a new disease entity
Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal...
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Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder
While whole genome sequencing and long-read sequencing have become widely available, more and more focuses are on noncoding expanded repeats. Indeed,...
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CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia,...
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The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1
Myotonic dystrophy type I (DM1) is a multisystemic autosomal-dominant inherited human disorder that is caused by CTG microsatellite repeat expansions...
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Anti-prion Drugs Targeting the Protein Folding Activity of the Ribosome Reduce PABPN1 Aggregation
Prion diseases are caused by the propagation of PrP Sc , the pathological conformation of the PrP C prion protein. The molecular mechanisms underlying...
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Toxicity Assessment Under the Pathological Conditions
In nematodes, some important pathological models can be generated. We here first introduced the comparative genomic analysis of Caenorhabditis...
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Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use
Repeat expansion disorders are a unique class of genetic diseases caused by expansions of short tandem repeats. Until recently, these pathogenic...
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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays of 1–6 base pair sequence motifs, that comprise a...
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Genetics and Differential Diagnosis of Cerebellar Ataxias
Ataxias are a complex and heterogeneous group of disorders characterized by the absence of order and coordination of voluntary movements and loss of...
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An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
BackgroundShort tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more...
